A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004757



Internal ID19093974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:13062181..13133612hg38UCSC Ensembl
Innerchr2:13202306..13273737hg19UCSC Ensembl
Innerchr2:13119757..13191188hg18UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3871432
hg1971432
hg1871432
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3718n100
Supporting Variantsnssv3726753, nssv3576989
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004757
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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